A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5570308



Internal ID21518672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236204636..236204786hg38UCSC Ensembl
chr2:237113279..237113429hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17110284
SamplesHG03065
Known GenesASB18
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5570308
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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